ClinVar for MedGen (Select 767431) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433170	NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)	KLLN, LOC130004271 (R62G)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 1683533	NM_001126049.2(KLLN):c.526C>A (p.Pro176Thr)	KLLN (P176T)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 1683532	NM_001126049.2(KLLN):c.226T>C (p.Phe76Leu)	KLLN, LOC130004271 (F76L)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 234894	NM_001126049.2(KLLN):c.-748G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 138836	NM_001126049.2(KLLN):c.-956G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127660	NM_001126049.2(KLLN):c.-898G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 40164	NG_033079.1:g.4675_4964\|gom	KLLN	Variation	Cowden syndrome 4	GPathogenic

ClinVar